Porphyria history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History
Symptoms
Acute porphyria
The cutaneous sensitivity to light is due to excitation of accumulated porphyrins in the skin by UV light. This leads to progressive damage, scarring and deformation.
The “ Acute porphyrias ”: AIP, VP, CP and ALA-dehydratase deficiency are characterized by acute attacks . The acute attack is characterized by:
- Severe abdominal pain (90%), back, buttock and thigh pain.
- Autonomic dysfunction: tachycardia, hypertension, ileus, bladder dysfunction, vomiting, sweating
- Dehydration is common.
- Seizures
- Hyponatremia (thought to be caused by ADH) can be severe.
- Motor neuropathies predominate but almost any neuropathy can be seen. The neuropathic effects can progress and become severe leading to irreversible neurologic damage, a Guillian-Barre type syndrome with paralysis, bulbar dysfunction, respiratory failure and death.
The hepatic porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances, including hallucinations, depression, anxiety and paranoia. Cardiac arrhythmias and tachycardia (fast heart rate) may develop as the autonomic nervous system is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhea can also occur.
Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those scenarios.[1] Lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria.[2]
Not all porphyrias are genetic, and patients with liver disease who develop porphyria as a result of liver dysfunction may exhibit signs of their conditions, such as jaundice.
Attacks of the disease can be triggered by drugs (e.g. barbiturates, alcohol, sulfa drugs, hormonal contraception, sedatives and certain antibiotics), other chemicals and certain foods. Fasting can also trigger attacks.
Patients with hepatic porphyrias (PCT, AIP, HCP, VP) are at increased risk over their life for hepatocellular carcinoma (primary liver cancer) and may require monitoring. Other typical risk factors for liver cancer need not be present, such as hepatitis B or C, iron overload or alcoholic cirrhosis.
Cutaneous porphyria
The erythropoietic porphyrias primarily affect the skin, causing photosensitivity (photodermatitis), blisters, necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead. Often there is no abdominal pain which distinguishes it from other porphyrias.
In some forms of porphyria, accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or pink urine may be seen. Heme precursors may also accumulate in the teeth and fingernails, giving them a reddish appearance.